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Tuberous sclerosis complex with ovarian endometrioma misdiagnosed as multiple metastases: a case report
Hao Tang1, Shan Peng2, Pengyu Meng1
1Department of Neurology, Affiliated Hospital of North Sichuan Medical College, North Sichuan Medical College, Nanchong, China.
Abstract:
Tuberous sclerosis complex (TSC) is an autosomal dominant genetic and multi-spectrum disease, characterized by the development of benign hamartomas in multiple organ systems, which may be misdiagnosed as malignant neoplasms. We present the case of a TSC patient with a large ovarian endometrioma that showed heterogeneous enhancement on a computerized tomography (CT) scan, and Tc-99 m-methylene diphosphonate (99mTc-MDP) bone scintigraphy revealed the possibility of bone metastases. She was initially misdiagnosed with a malignant ovarian tumor and multiple metastases, whereas the definitive diagnosis was established based on clinical diagnostic criteria related to TSC. Following multidisciplinary management, our patient's general condition remains satisfactory. We aim to enhance the understanding of TSC by summarizing the clinical manifestations and imaging findings of our patient in order to reduce the rates of missed and misdiagnosed cases.
